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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Phgdh and amino acid metabolic disorder in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from Klomp LW, etal., Am J Hum Genet. 2000 Dec;67(6):1389-99. Epub 2000 Oct 27.
  • The annotation has been inferred from sequence orthology with PHGDH (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 2 additional annotations were made from Klomp LW, etal., Am J Hum Genet. 2000 Dec;67(6):1389-99. Epub 2000 Oct 27.
  • 1526 RGD objects have been annotated to amino acid metabolic disorder  (DOID:9252)
  • 11 papers in RGD have been used to annotate Phgdh
  • Curation Notes: PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M


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